Varaico: Literature-Extracted Genetic Variants

KIDINS220

165 papers

RefSeq Summary

This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasti...

Pfam Domains

Ank_2aa 9–101UCSCAnkyrin repeats (3 copies)

Ank_2aa 60–134UCSCAnkyrin repeats (3 copies)

Ank_2aa 135–200UCSCAnkyrin repeats (3 copies)

Ank_2aa 193–266UCSCAnkyrin repeats (3 copies)

Ank_2aa 258–330UCSCAnkyrin repeats (3 copies)

Ank_2aa 306–396UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

kinase D interacting substrate 220

HGNC Previous Name

kinase D-interacting substrate 220kDa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020738.4

p.P1110P

c.3330C>T

Surrounding Variants

1 paper

NM_020738.4

p.F1111F

c.3333C>T

4 papers

NM_020738.4

p.N1108S

c.3323A>G

1 paper

NM_020738.4

p.F1107F

c.3321C>T

1 paper

NM_020738.4

p.G1114G

c.3342A>G

1 paper

NM_020738.4

p.V1115G

c.3344T>G

1 paper

NM_020738.4

p.S1106P

c.3316T>C

1 paper

NM_020738.4

p.Y1125fs

c.3373_3374fs

1 paper

NM_020738.4

p.Y1125*

c.3375C>G

1 paper

NM_020738.4

p.Y1125*

c.3375C>A

2 papers

NM_020738.4

p.G1127S

c.3379G>A

1 paper

NM_020738.4

p.S1093S

c.3279A>T

1 paper

NM_020738.4

p.T1129T

c.3387G>A